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  • Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitors vs Conventional Chemotherapy in Non–Small Cell Lung Cancer Harboring Wild-Type Epidermal Growth Factor Receptor: A Meta-analysis

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    JAMA. 2014; 311(14):1430-1437. doi: 10.1001/jama.2014.3314

    J.-K. Lee and coauthors performed a systematic review and meta-analysis to determine the association between survival and first-generation epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors vs chemotherapy among patients with advanced non–small cell lung cancer with wild-type EGFR.

  • NIH Scientists Identify Chemical DNA Signature of 5 Cancers

    Abstract Full Text
    JAMA. 2016; 315(12):1219-1219. doi: 10.1001/jama.2016.2451
  • Cancer DNA in the Circulation: The Liquid Biopsy

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    JAMA. 2017; 318(13):1272-1274. doi: 10.1001/jama.2017.12131

    This JAMA Insights article explains cell-free circulating tumor DNA and its utility in noninvasive cancer detection and characterization, prediction of treatment response, monitoring of disease relapse, and identification of mechanisms of resistance to targeted therapies.

  • Human Granulocytic Anaplasmosis and Lyme Disease—Reply

    Abstract Full Text
    JAMA. 2016; 316(1):99-99. doi: 10.1001/jama.2016.4295
  • Safety and Wound Outcomes Following Genetically Corrected Autologous Epidermal Grafts in Patients With Recessive Dystrophic Epidermolysis Bullosa

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    JAMA. 2016; 316(17):1808-1817. doi: 10.1001/jama.2016.15588

    This phase 1 trial evaluates safety and wound outcomes after transplant of genetically corrected autologous epidermal grafts onto wounds of patients with recessive dystrophic epidermolysis bullosa.

  • Long QT Syndrome–Associated Mutations in Intrauterine Fetal Death

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    JAMA. 2013; 309(14):1473-1482. doi: 10.1001/jama.2013.3219
    To determine the spectrum and prevalence of mutations in 3 genes that are most long QT syndrome susceptible, Crotti and coauthors conducted a retrospective postmortem genetic testing analysis on 91 unexplained intrauterine fetal deaths in the United States and Italy.
  • Chromosomal Microarray Testing for Children With Unexplained Neurodevelopmental Disorders

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    JAMA. 2017; 317(24):2545-2546. doi: 10.1001/jama.2017.7272

    This Genomics and Precision Health article discusses the advantages of chromosomal microarray analysis over G-banded karotyping for evaluating neurodevelopmental disorders in children.

  • Tumor Screening and DNA Testing in the Diagnosis of Lynch Syndrome

    Abstract Full Text
    JAMA. 2016; 316(1):93-94. doi: 10.1001/jama.2016.8286

    A 43-year-old woman with stage IA endometrial cancer had her tumor screened for DNA mismatch repair proteins and microsatellite instability and had 1 absent immunostain. How do you interpret the test results?

  • JAMA January 5, 2011

    Figure 4: Loss-of-Heterozygosity Analysis of Sertoli-Leydig Cell Tumor and Multinodular Goiter in an Affected Proband

    There is no loss of heterozygosity in Sertoli-Leydig cell tumor (SLCT) and multinodular goiter tissue from the affected proband (individual II-2, family B). A and B were sequenced simultaneously, and C and D were sequenced simultaneously at a different time. gDNA indicates genomic DNA; arrowhead indicates mutation. Nucleotides labeled with N indicate sites where dual peaks are present.
  • Glossary of Genomics Terms

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    JAMA. 2013; 309(14):1533-1535. doi: 10.1001/jama.2013.2950
  • Association of BRCA1 and BRCA2 Mutations With Survival, Chemotherapy Sensitivity, and Gene Mutator Phenotype in Patients With Ovarian Cancer

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    JAMA. 2011; 306(14):1557-1565. doi: 10.1001/jama.2011.1456
  • JAMA April 10, 2013

    Figure 1: Workflow for Identification and Characterization of an Outbreak Strain Using Metagenomics

    Molecular clusters of clonal template DNA are generated onboard the HiSeq 2500 and MiSeq instruments. These instruments then take 40 and 27 hours, respectively, to generate 151 base paired–end reads (ie, each individual DNA fragment is sequenced or read from both ends). Bioinformatics analysis then follows, starting with individual sequence reads. Further details are available in the eSupplement. STEC indicates Shiga-toxigenic Escherichia coli.aA sequencing library is a collection of DNA fragments from a sample that are ready for sequencing. These fragments have short adapter molecules with known sequence ligated to each end and a sample-specific bar-code sequence used to identify the source of the fragment after sequencing.bA draft genome is a usable collection of sequences from a genome, which may still contain ambiguities and uncertainties about the order of fragments.
  • Epigenetics at the Crossroads of Genes and the Environment

    Abstract Full Text
    JAMA. 2015; 314(11):1129-1130. doi: 10.1001/jama.2015.10414

    This Viewpoint summarizes new trends in the field of epigenetics and epigenetic epidemiology.

  • JAMA December 22, 2010

    Figure 2: Germline DNA Methylation of PTEN and KILLIN in Cowden Syndrome and Cowden-like Syndrome

    A, Example of combined bisulfite restriction analysis (COBRA) of polymerase chain reaction (PCR) products from a subset of patients with Cowden syndrome or Cowden-like syndrome (numbers refer to patients in eTable 1). The 0% and 100% are from peripheral blood DNA, the 100% having been in vitro methylated with Sss I methylase. These serve as negative and positive controls for methylation pattern analysis of the patients. An increase in the intensity of smaller digested bands compared with the control samples indicates increased methylation in the tumor DNA. B, Results from bisulfite sequencing analysis of 8 of the patient samples. Each row of circles represents an individual cell clone. bp indicates base pair.
  • JAMA November 3, 2015

    Figure 2: Group A and Group B TP53 Retrogenes in the African Elephant

    A maximum likelihood phylogeny was used to cluster the sequenced TP53 retrogene clones and to confirm the number of unique genes uncovered in the African elephant genome. The phylogeny allows for visualization of TP53 retrogene similarity to one another as well as their relationship to the ancestral TP53 sequence in the elephant and hyrax. The capillary sequenced clones from this study are shown as black circles and published sequences from GenBank are shown as red squares. Gene identifiers and genomic coordinates are given in eTable 2 in the Supplement. Phylogenic analysis reveals at least 18 distinct clusters of processed TP53 copies (shown as colored blocks numbered 1 to 18). These clusters fall into 2 groups, labeled group A and group B. The branch labeled “elephant” is the coding sequence of the ancestral TP53, and “hyrax” represents the coding sequences from the hyrax TP53. The hyrax, on the upper left, is used as the outgroup to show that the hyrax and elephant ancestral TP53 sequences are more similar to each other than to the retrogenes, and also that the retrogenes evolved after the split between hyrax and elephant. The distances between the retrogene sequences display their relationship based on sequence similarity but do not represent precise evolutionary time estimates. These data were generated with DNA from 1 elephant to control for polymorphic bases between individual elephants.
  • Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing

    Abstract Full Text
    JAMA. 2017; 318(9):825-835. doi: 10.1001/jama.2017.11137

    This case series of patients with advanced cancer evaluates the proportion and potential clinical implications of inherited variants detected using DNA sequencing of tumor and normal tissue compared with genetic test results based on current guidelines.

  • Estimation of Benefits, Burden, and Harms of Colorectal Cancer Screening Strategies: Modeling Study for the US Preventive Services Task Force

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    JAMA. 2016; 315(23):2595-2609. doi: 10.1001/jama.2016.6828

    This modeling study uses 3 microsimulation models of a hypothetical cohort to model the benefits, burden, and harms of colorectal cancer screening strategies to inform the 2016 update of US Preventive Services Task Force Recommendation Statement.

  • Bar Code Technology Enables Cancer Cell Protein Analysis

    Abstract Full Text
    JAMA. 2014; 311(9):894-894. doi: 10.1001/jama.2014.1871
  • From JAMA ’s Daily News Site

    Abstract Full Text
    JAMA. 2013; 309(18):1884-1884. doi: 10.1001/jama.2013.4959